A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661546



Internal ID9927651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9784203..9793241hg38UCSC Ensembl
chr18:9784200..9793238hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg389039
hg199039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5683927, essv6222672, essv5442646, essv6249732, essv5829730, essv5581212, essv6485891, essv5769614, essv6007170, essv5682364, essv5886590, essv5440724, essv6486278, essv6022732, essv6447528, essv6565396, essv5767754, essv5469740, essv5452835, essv6536263, essv6388719, essv5993213, essv6376496, essv5631561, essv6036638, essv6455927, essv5866743, essv6343037, essv5689776, essv5622968, essv5879551, essv6016949, essv6279355, essv5491763, essv5455739, essv6396458, essv6478311, essv5936246, essv5902760, essv6180132, essv6216390, essv5467810, essv6114945, essv5513947, essv5586338, essv5737642, essv6016458, essv6443930, essv6536768, essv6494740, essv6070461, essv5936460, essv6418699, essv5414003, essv5865053, essv6480434, essv5979166, essv6298469, essv5633501, essv5574948, essv6133113, essv6029885, essv6224797, essv6241891, essv6399991, essv6576781, essv6178190, essv6418997, essv6246935, essv5556032, essv6402366, essv5933044, essv5589789, essv6171200, essv5692722, essv6505123, essv5423832, essv6159741, essv6432659, essv6572949, essv6441517, essv5843557, essv5458629
SamplesNA20588, NA20529, HG00231, HG00142, NA18508, HG01052, NA20512, HG00244, NA20294, NA19777, HG00179, NA19920, NA12413, HG00589, HG00448, NA20774, NA20756, NA20317, NA20769, NA19197, NA07347, HG01354, HG01110, NA19404, NA19651, HG01080, HG00156, NA12044, HG00118, HG00159, HG00419, HG00253, HG00739, NA20818, HG01183, HG00154, HG01171, NA19070, NA20787, NA20519, NA19658, NA18948, HG00239, NA19776, HG00284, HG00273, NA20299, NA19655, HG01383, NA06989, HG01101, HG00321, NA20828, NA19318, HG01107, NA20296, NA19685, NA19390, HG01190, NA12775, NA20804, HG00278, NA07051, NA20790, NA20527, HG00308, NA20803, NA19398, NA20582, HG00342, NA20334, NA12830, NA20786, HG00280, HG00131, NA11843, NA20758, NA20502, NA19430, NA18989, NA19316, HG01125, HG00345
Known GenesRAB31
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661546
Frequency
Sample Size1151
Observed Gain0
Observed Loss83
Observed Complex0
Frequencyn/a


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