A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585354



Internal ID6625673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16911922..16940201hg38UCSC Ensembl
chr1:17238417..17266696hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3828280
hg1928280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv13e214
Supporting Variantsessv9872623, essv9872671, essv9872634, essv9872686, essv9872663, essv9872625, essv9872618, essv9872629, essv9872667, essv9872679, essv9872631, essv9872616, essv9872674, essv9872636, essv9872672, essv9872684, essv9872669, essv9872650, essv9872639, essv9872681, essv9872677, essv9872651, essv9872614, essv9872683, essv9872657, essv9872655, essv9872628, essv9872656, essv9872652, essv9872685, essv9872622, essv9872645, essv9872617, essv9872626, essv9872662, essv9872660, essv9872641, essv9872678, essv9872653, essv9872675, essv9872615, essv9872664, essv9872627, essv9872659, essv9872642, essv9872647, essv9872633, essv9872630, essv9872680, essv9872624, essv9872665, essv9872646, essv9872640, essv9872619, essv9872649, essv9872643, essv9872632, essv9872676, essv9872654, essv9872673, essv9872644, essv9872682, essv9872670, essv9872635, essv9872638, essv9872620, essv9872661, essv9872648, essv9872668, essv9872666, essv9872658, essv9872637, essv9872621
SamplesNA18745, HG01462, HG02318, NA18599, HG01066, HG02891, HG03130, NA19092, NA19819, HG00115, HG02888, NA20359, HG04156, HG00641, HG03464, NA19319, HG01488, HG02840, HG01063, NA18749, HG02703, HG02461, HG01767, HG03225, NA19239, HG03267, HG03058, NA19445, NA20127, HG02479, HG01565, HG02716, HG02943, HG02442, HG02439, HG03054, HG01790, HG02322, HG02450, HG03771, HG02817, HG03202, HG03446, HG02881, NA18853, NA20282, NA19099, NA19225, HG01286, NA19160, HG01990, NA19035, NA19206, NA18909, NA19712, HG00353, NA07051, HG03304, HG02317, HG02814, HG00672, NA19248, NA19472, NA19223, HG01783, NA19770, NA18876, NA19711, HG02947, HG01775, HG03376, NA18522, HG02808
Known GenesCROCC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585354
Frequency
Sample Size2504
Observed Gain73
Observed Loss0
Observed Complex0
Frequencyn/a


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