A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10889887



Internal ID1748853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239298624..239299392hg38UCSC Ensembl
Innerchr2:239298635..239299381hg38UCSC Ensembl
Outerchr2:239298613..239299403hg38UCSC Ensembl
chr2:240220319..240221087hg19UCSC Ensembl
Innerchr2:240220330..240221076hg19UCSC Ensembl
Outerchr2:240220308..240221098hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38769
hg19769
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594780
Supporting Variants
SamplesHG01615
Known GenesHDAC4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10889887
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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