A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12828025



Internal ID1855964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70544320..70548166hg38UCSC Ensembl
Innerchr7:70544820..70547666hg38UCSC Ensembl
Outerchr7:70543320..70549166hg38UCSC Ensembl
chr7:70009306..70013152hg19UCSC Ensembl
Innerchr7:70009806..70012652hg19UCSC Ensembl
Outerchr7:70008306..70014152hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg383847
hg193847
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613605
Supporting Variants
SamplesHG01756
Known GenesAUTS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12828025
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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