A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10783744



Internal ID1020788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179627852..179668652hg38UCSC Ensembl
Innerchr2:179627852..179668652hg38UCSC Ensembl
Outerchr2:179627352..179669152hg38UCSC Ensembl
chr2:180492579..180533379hg19UCSC Ensembl
Innerchr2:180492579..180533379hg19UCSC Ensembl
Outerchr2:180492079..180533879hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3840801
hg1940801
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593511
Supporting Variants
SamplesHG00638
Known GenesZNF385B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10783744
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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