A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592649



Internal ID6979976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138925514..138926890hg38UCSC Ensembl
Innerchr2:138925518..138926887hg38UCSC Ensembl
Outerchr2:138925511..138926894hg38UCSC Ensembl
chr2:139683084..139684460hg19UCSC Ensembl
Innerchr2:139683088..139684457hg19UCSC Ensembl
Outerchr2:139683081..139684464hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg381377
hg191377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10689898, essv10689899, essv10689900, essv10689901
SamplesHG01413, HG02685, NA20803, HG01783
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592649
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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