A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12947483



Internal ID1701897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:120876249..120945973hg38UCSC Ensembl
Innerchr7:120876292..120945931hg38UCSC Ensembl
Outerchr7:120876207..120946016hg38UCSC Ensembl
chr7:120516303..120586027hg19UCSC Ensembl
Innerchr7:120516346..120585985hg19UCSC Ensembl
Outerchr7:120516261..120586070hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3869725
hg1969725
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614810
Supporting Variants
SamplesHG01578
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12947483
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