A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10061240



Internal ID1035864
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587169
Supporting Variants
SamplesHG00654
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10061240
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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