A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12890527



Internal ID2892343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92517321..92518849hg38UCSC Ensembl
Innerchr7:92517321..92518849hg38UCSC Ensembl
Outerchr7:92517165..92519003hg38UCSC Ensembl
chr7:92146635..92148163hg19UCSC Ensembl
Innerchr7:92146635..92148163hg19UCSC Ensembl
Outerchr7:92146479..92148317hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg381529
hg191529
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614141
Supporting Variants
SamplesNA19920
Known GenesPEX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12890527
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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