A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12906230



Internal ID1007996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98999684..99016092hg38UCSC Ensembl
Innerchr7:98999684..99016092hg38UCSC Ensembl
Outerchr7:98999184..99016592hg38UCSC Ensembl
chr7:98597307..98613715hg19UCSC Ensembl
Innerchr7:98597307..98613715hg19UCSC Ensembl
Outerchr7:98596807..98614215hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3816409
hg1916409
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614265
Supporting Variants
SamplesHG00629
Known GenesTRRAP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12906230
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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