A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10763623



Internal ID1331366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174531447..174534001hg38UCSC Ensembl
Innerchr2:174531506..174533942hg38UCSC Ensembl
Outerchr2:174531388..174534060hg38UCSC Ensembl
chr2:175396175..175398729hg19UCSC Ensembl
Innerchr2:175396234..175398670hg19UCSC Ensembl
Outerchr2:175396116..175398788hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382555
hg192555
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593409
Supporting Variants
SamplesHG01173
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10763623
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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