A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10875253



Internal ID3884481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230841203..230842187hg38UCSC Ensembl
Innerchr2:230841391..230842137hg38UCSC Ensembl
Outerchr2:230841019..230842371hg38UCSC Ensembl
chr2:231705918..231706902hg19UCSC Ensembl
Innerchr2:231706106..231706852hg19UCSC Ensembl
Outerchr2:231705734..231707086hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38985
hg19985
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594614
Supporting Variants
SamplesHG03521
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10875253
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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