A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585090



Internal ID6972614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5299202..5302082hg38UCSC Ensembl
Innerchr1:5299204..5302081hg38UCSC Ensembl
Outerchr1:5299201..5302084hg38UCSC Ensembl
chr1:5359262..5362142hg19UCSC Ensembl
Innerchr1:5359264..5362141hg19UCSC Ensembl
Outerchr1:5359261..5362144hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382881
hg192881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9845265, essv9845273, essv9845266, essv9845269, essv9845263, essv9845267, essv9845270, essv9845264, essv9845271, essv9845262, essv9845272, essv9845274, essv9845261, essv9845268
SamplesHG02628, HG03130, HG03172, HG02621, NA19319, HG02477, NA19451, HG01247, HG03081, HG03027, NA18856, HG00638, NA19472, HG02947
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585090
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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