A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615366



Internal ID6655565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146436711..146442597hg38UCSC Ensembl
chr7:146133803..146139689hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg385887
hg195887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12997660, essv12997719, essv12997722, essv12997662, essv12997654, essv12997686, essv12997710, essv12997672, essv12997717, essv12997653, essv12997711, essv12997704, essv12997648, essv12997680, essv12997728, essv12997670, essv12997658, essv12997725, essv12997727, essv12997688, essv12997708, essv12997730, essv12997681, essv12997676, essv12997665, essv12997703, essv12997715, essv12997677, essv12997691, essv12997669, essv12997663, essv12997652, essv12997668, essv12997687, essv12997671, essv12997716, essv12997656, essv12997679, essv12997702, essv12997674, essv12997697, essv12997729, essv12997684, essv12997690, essv12997651, essv12997712, essv12997685, essv12997718, essv12997657, essv12997694, essv12997659, essv12997724, essv12997698, essv12997721, essv12997720, essv12997689, essv12997682, essv12997678, essv12997723, essv12997713, essv12997714, essv12997692, essv12997700, essv12997650, essv12997675, essv12997683, essv12997705, essv12997673, essv12997726, essv12997649, essv12997645, essv12997699, essv12997709, essv12997693, essv12997667, essv12997664, essv12997706, essv12997661, essv12997655, essv12997707, essv12997695, essv12997666, essv12997696, essv12997701, essv12997647, essv12997646
SamplesHG02470, HG03136, NA19137, HG03121, NA19030, HG02882, HG03567, HG02675, HG03479, HG00551, NA18933, NA19404, NA19114, HG01083, HG03478, HG03437, NA19093, HG02549, HG03129, HG03304, HG03196, NA19223, HG03189, NA18516, HG01085, NA18517, HG02885, HG02887, NA20342, HG02508, NA18489, HG02314, HG02471, NA18507, HG02817, HG03572, NA19308, HG02982, NA19028, NA19428, HG03127, HG02634, HG02716, NA18856, HG03241, NA19351, NA18916, HG03166, HG03114, NA19324, NA19190, HG03225, NA19172, NA19374, NA19716, NA19119, HG02439, HG02971, HG01139, HG02511, NA19332, NA19707, HG02881, HG02570, HG02484, HG03224, HG01971, NA18915, HG03246, HG03267, NA20274, NA20287, HG02144, HG01390, NA18879, HG03123, HG02489, HG03025, HG03369, NA18499, NA20359, HG03557, HG02505, NA19448, HG02095, NA19456
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615366
Frequency
Sample Size2504
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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