A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12668863



Internal ID2670679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2830578..2832314hg38UCSC Ensembl
Innerchr7:2830594..2832299hg38UCSC Ensembl
Outerchr7:2830563..2832330hg38UCSC Ensembl
chr7:2870212..2871948hg19UCSC Ensembl
Innerchr7:2870228..2871933hg19UCSC Ensembl
Outerchr7:2870197..2871964hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg381737
hg191737
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611854
Supporting Variants
SamplesHG01500
Known GenesGNA12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12668863
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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