A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586350



Internal ID6626663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70182537..70184639hg38UCSC Ensembl
Innerchr1:70182537..70184639hg38UCSC Ensembl
Outerchr1:70182217..70184930hg38UCSC Ensembl
chr1:70648220..70650322hg19UCSC Ensembl
Innerchr1:70648220..70650322hg19UCSC Ensembl
Outerchr1:70647900..70650613hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382103
hg192103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9964109, essv9964105, essv9964101, essv9964097, essv9964112, essv9964111, essv9964115, essv9964114, essv9964113, essv9964099, essv9964116, essv9964108, essv9964100, essv9964107, essv9964104, essv9964106, essv9964117, essv9964098, essv9964103, essv9964110, essv9964096, essv9964102
SamplesHG00663, NA18995, HG02087, NA18619, HG01848, HG00451, NA18964, NA18539, HG00675, HG00596, HG03907, HG04162, HG00533, NA18637, HG01808, HG00619, NA18566, NA18531, HG00631, NA18629, NA18622, HG00581
Known GenesLRRC40
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586350
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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