A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10193392



Internal ID5675315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:177539881..177590956hg38UCSC Ensembl
Innerchr1:177539896..177590942hg38UCSC Ensembl
Outerchr1:177539867..177590971hg38UCSC Ensembl
chr1:177509016..177560091hg19UCSC Ensembl
Innerchr1:177509031..177560077hg19UCSC Ensembl
Outerchr1:177509002..177560106hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3851076
hg1951076
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588015
Supporting Variants
SamplesNA19079
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10193392
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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