A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10540347



Internal ID1501378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72679147..72687643hg38UCSC Ensembl
Innerchr2:72679647..72687143hg38UCSC Ensembl
Outerchr2:72678147..72688643hg38UCSC Ensembl
chr2:72906276..72914772hg19UCSC Ensembl
Innerchr2:72906776..72914272hg19UCSC Ensembl
Outerchr2:72905276..72915772hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg388497
hg198497
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591244
Supporting Variants
SamplesHG01378
Known GenesEXOC6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10540347
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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