A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12910121



Internal ID6308243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101378660..101380233hg38UCSC Ensembl
Innerchr7:101378694..101380199hg38UCSC Ensembl
Outerchr7:101378626..101380267hg38UCSC Ensembl
chr7:101021941..101023514hg19UCSC Ensembl
Innerchr7:101021975..101023480hg19UCSC Ensembl
Outerchr7:101021907..101023548hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381574
hg191574
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614331
Supporting Variants
SamplesNA19909
Known GenesCOL26A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12910121
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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