A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587169



Internal ID6974596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110678456..110686345hg38UCSC Ensembl
Innerchr1:110678496..110686305hg38UCSC Ensembl
Outerchr1:110678416..110686385hg38UCSC Ensembl
chr1:111221078..111228967hg19UCSC Ensembl
Innerchr1:111221118..111228927hg19UCSC Ensembl
Outerchr1:111221038..111229007hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg387890
hg197890
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10061240, essv10061241
SamplesHG00654, HG02151
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587169
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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