A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12975956



Internal ID1977227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135306995..135308640hg38UCSC Ensembl
Innerchr7:135307009..135308627hg38UCSC Ensembl
Outerchr7:135306982..135308654hg38UCSC Ensembl
chr7:134991747..134993392hg19UCSC Ensembl
Innerchr7:134991761..134993379hg19UCSC Ensembl
Outerchr7:134991734..134993406hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381646
hg191646
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615117
Supporting Variants
SamplesHG01842
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12975956
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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