A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10762917



Internal ID3862330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173426034..173432460hg38UCSC Ensembl
Innerchr2:173426040..173432455hg38UCSC Ensembl
Outerchr2:173426029..173432466hg38UCSC Ensembl
chr2:174290762..174297188hg19UCSC Ensembl
Innerchr2:174290768..174297183hg19UCSC Ensembl
Outerchr2:174290757..174297194hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386427
hg196427
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593383
Supporting Variants
SamplesHG03491
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10762917
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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