A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585650



Internal ID6973170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31490551..31498523hg38UCSC Ensembl
Innerchr1:31490551..31498523hg38UCSC Ensembl
Outerchr1:31490051..31506263hg38UCSC Ensembl
chr1:31963398..31971364hg19UCSC Ensembl
Innerchr1:31963398..31971364hg19UCSC Ensembl
Outerchr1:31962898..31971864hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg387973
hg197967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9895653, essv9895657, essv9895664, essv9895660, essv9895667, essv9895663, essv9895652, essv9895662, essv9895655, essv9895666, essv9895665, essv9895658, essv9895661, essv9895659, essv9895654, essv9895656
SamplesHG02496, HG03069, HG03074, NA19374, NA19457, NA19038, NA19025, HG01880, HG02722, NA19375, HG02282, NA19390, HG03539, NA19454, HG03039, HG02768
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585650
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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