A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10779412



Internal ID3988937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178976683..178978470hg38UCSC Ensembl
Innerchr2:178976707..178978446hg38UCSC Ensembl
Outerchr2:178976659..178978494hg38UCSC Ensembl
chr2:179841410..179843197hg19UCSC Ensembl
Innerchr2:179841434..179843173hg19UCSC Ensembl
Outerchr2:179841386..179843221hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381788
hg191788
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593498
Supporting Variants
SamplesHG03643
Known GenesCCDC141
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10779412
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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