A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586224



Internal ID6626537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61971764..61986875hg38UCSC Ensembl
Innerchr1:61972264..61986375hg38UCSC Ensembl
Outerchr1:61970764..61987875hg38UCSC Ensembl
chr1:62437436..62452547hg19UCSC Ensembl
Innerchr1:62437936..62452047hg19UCSC Ensembl
Outerchr1:62436436..62453547hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3815112
hg1915112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9948166, essv9948158, essv9948156, essv9948168, essv9948167, essv9948161, essv9948171, essv9948163, essv9948181, essv9948177, essv9948179, essv9948178, essv9948162, essv9948165, essv9948174, essv9948172, essv9948154, essv9948164, essv9948183, essv9948180, essv9948159, essv9948175, essv9948169, essv9948170, essv9948182, essv9948176, essv9948155, essv9948160, essv9948173, essv9948157
SamplesNA18861, NA19026, NA19222, HG03112, HG03129, HG03304, HG01885, NA18517, HG03294, NA19834, NA19108, HG02973, HG02861, NA19256, HG02757, HG03225, HG02442, HG02449, HG02852, HG03297, HG03246, HG01893, HG03240, HG02679, NA19118, HG02721, NA19130, HG03517, HG02855, HG03095
Known GenesINADL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586224
Frequency
Sample Size2504
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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