A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591011



Internal ID6978339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61054634..61058628hg38UCSC Ensembl
Innerchr2:61055134..61058128hg38UCSC Ensembl
Outerchr2:61053634..61059628hg38UCSC Ensembl
chr2:61281769..61285763hg19UCSC Ensembl
Innerchr2:61282269..61285263hg19UCSC Ensembl
Outerchr2:61280769..61286763hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg383995
hg193995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10519512, essv10519527, essv10519533, essv10519520, essv10519514, essv10519518, essv10519534, essv10519531, essv10519535, essv10519524, essv10519510, essv10519516, essv10519507, essv10519525, essv10519506, essv10519515, essv10519513, essv10519528, essv10519508, essv10519532, essv10519519, essv10519517, essv10519522, essv10519511, essv10519530, essv10519529, essv10519509, essv10519536, essv10519526, essv10519521, essv10519523
SamplesNA19701, HG03121, HG02836, NA19393, HG03193, HG03139, HG02895, HG03168, NA18489, HG02840, NA20291, NA19137, HG02885, NA19235, HG01164, NA18934, HG03088, HG01882, HG02537, HG03311, NA19031, NA18912, HG01286, NA19206, NA19256, HG01915, NA18865, HG03108, HG02938, NA19129, HG03439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591011
Frequency
Sample Size2504
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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