A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10865176



Internal ID4991648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224230026..224232426hg38UCSC Ensembl
Innerchr2:224230026..224232426hg38UCSC Ensembl
Outerchr2:224229825..224232675hg38UCSC Ensembl
chr2:225094743..225097143hg19UCSC Ensembl
Innerchr2:225094743..225097143hg19UCSC Ensembl
Outerchr2:225094542..225097392hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382401
hg192401
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594459
Supporting Variants
SamplesNA18498
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10865176
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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