A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593180



Internal ID6633460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162321856..162323911hg38UCSC Ensembl
Innerchr2:162321907..162323861hg38UCSC Ensembl
Outerchr2:162321708..162324059hg38UCSC Ensembl
chr2:163178366..163180421hg19UCSC Ensembl
Innerchr2:163178417..163180371hg19UCSC Ensembl
Outerchr2:163178218..163180569hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg382056
hg192056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10742710, essv10742731, essv10742737, essv10742735, essv10742703, essv10742728, essv10742716, essv10742732, essv10742718, essv10742724, essv10742725, essv10742730, essv10742707, essv10742727, essv10742736, essv10742714, essv10742726, essv10742708, essv10742719, essv10742739, essv10742729, essv10742734, essv10742706, essv10742705, essv10742713, essv10742738, essv10742712, essv10742709, essv10742715, essv10742740, essv10742717, essv10742704, essv10742733, essv10742721, essv10742720, essv10742711, essv10742723, essv10742722
SamplesHG03366, HG02496, NA19397, NA19378, NA20294, NA19393, NA18504, HG02541, NA19198, HG02111, HG03079, HG02562, HG02715, HG02943, NA19908, NA19043, HG01077, NA18879, NA19225, NA19318, NA19436, NA19035, NA19375, NA19206, NA19144, NA19428, NA19467, NA19360, NA19376, NA20348, HG03157, HG02938, NA19185, NA19116, HG01914, HG01883, NA19121, NA19030
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593180
Frequency
Sample Size2504
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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