A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587693



Internal ID6975115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159096301..159098511hg38UCSC Ensembl
Innerchr1:159096308..159098505hg38UCSC Ensembl
Outerchr1:159096295..159098518hg38UCSC Ensembl
chr1:159066091..159068301hg19UCSC Ensembl
Innerchr1:159066098..159068295hg19UCSC Ensembl
Outerchr1:159066085..159068308hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg382211
hg192211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10163848, essv10163844, essv10163842, essv10163846, essv10163852, essv10163849, essv10163851, essv10163841, essv10163839, essv10163845, essv10163840, essv10163847, essv10163838, essv10163843, essv10163850
SamplesHG01802, HG00337, HG00689, HG00379, HG00422, HG02136, NA18991, HG01845, NA18634, NA18953, NA18992, NA18631, NA18552, NA19063, HG00437
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587693
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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