A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586967



Internal ID6974394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101227674..101233554hg38UCSC Ensembl
Innerchr1:101227697..101233532hg38UCSC Ensembl
Outerchr1:101227652..101233577hg38UCSC Ensembl
chr1:101693230..101699110hg19UCSC Ensembl
Innerchr1:101693253..101699088hg19UCSC Ensembl
Outerchr1:101693208..101699133hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg385881
hg195881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10032586, essv10032578, essv10032580, essv10032583, essv10032584, essv10032579, essv10032588, essv10032582, essv10032587, essv10032581, essv10032585
SamplesHG04210, NA18870, NA20894, HG03873, NA18991, HG03898, NA18543, HG04186, HG02790, HG00513, HG03955
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586967
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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