A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12813450



Internal ID1755555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65029719..65071103hg38UCSC Ensembl
Innerchr7:65029719..65071103hg38UCSC Ensembl
Outerchr7:65029219..65071603hg38UCSC Ensembl
chr7:64490097..64531481hg19UCSC Ensembl
Innerchr7:64490097..64531481hg19UCSC Ensembl
Outerchr7:64489597..64531981hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3841385
hg1941385
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613433
Supporting Variants
SamplesHG01618
Known GenesCCT6P3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12813450
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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