A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593392



Internal ID6633672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173920627..173931897hg38UCSC Ensembl
Innerchr2:173921127..173931397hg38UCSC Ensembl
Outerchr2:173919627..173932897hg38UCSC Ensembl
chr2:174785355..174796625hg19UCSC Ensembl
Innerchr2:174785855..174796125hg19UCSC Ensembl
Outerchr2:174784355..174797625hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3811271
hg1911271
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv751e214
Supporting Variantsessv10763197, essv10763198
SamplesNA20769, HG01121
Known GenesSP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593392
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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