A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587280



Internal ID6974707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115138197..115139303hg38UCSC Ensembl
Innerchr1:115138200..115139301hg38UCSC Ensembl
Outerchr1:115138195..115139306hg38UCSC Ensembl
chr1:115680818..115681924hg19UCSC Ensembl
Innerchr1:115680821..115681922hg19UCSC Ensembl
Outerchr1:115680816..115681927hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381107
hg191107
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10079734, essv10079722, essv10079723, essv10079732, essv10079742, essv10079733, essv10079736, essv10079735, essv10079726, essv10079725, essv10079739, essv10079729, essv10079747, essv10079744, essv10079727, essv10079746, essv10079743, essv10079745, essv10079731, essv10079748, essv10079730, essv10079728, essv10079738, essv10079724, essv10079749, essv10079737, essv10079740, essv10079741, essv10079721
SamplesHG01918, HG00143, HG00231, HG00306, NA20752, NA20808, NA12400, HG01704, HG00337, HG01503, HG00272, NA20768, NA20513, HG00185, NA20541, NA20757, HG01344, HG00373, HG01130, HG00276, HG00146, HG01685, NA20362, HG01623, HG00269, HG04023, HG00342, HG02425, HG01695
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587280
Frequency
Sample Size2504
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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