A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10246717



Internal ID5326000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:195717493..195813735hg38UCSC Ensembl
chr1:195686623..195782865hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3896243
hg1996243
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588448
Supporting Variants
SamplesNA18868
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10246717
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer