A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594822



Internal ID6982142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241240359..241241688hg38UCSC Ensembl
Innerchr2:241240359..241241688hg38UCSC Ensembl
Outerchr2:241240129..241241963hg38UCSC Ensembl
chr2:242179774..242181103hg19UCSC Ensembl
Innerchr2:242179774..242181103hg19UCSC Ensembl
Outerchr2:242179544..242181378hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381330
hg191330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10893361, essv10893363, essv10893365, essv10893364, essv10893362
SamplesHG01110, HG01048, HG00360, NA12778, HG01085
Known GenesHDLBP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594822
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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