A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10079753



Internal ID5036614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115177682..115185655hg38UCSC Ensembl
Innerchr1:115177682..115185655hg38UCSC Ensembl
Outerchr1:115177510..115185824hg38UCSC Ensembl
chr1:115720303..115728276hg19UCSC Ensembl
Innerchr1:115720303..115728276hg19UCSC Ensembl
Outerchr1:115720131..115728445hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg387974
hg197974
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587281
Supporting Variants
SamplesNA18523
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10079753
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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