A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12882001



Internal ID2883817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:89274120..89277753hg38UCSC Ensembl
Innerchr7:89274620..89277253hg38UCSC Ensembl
Outerchr7:89273120..89278753hg38UCSC Ensembl
chr7:88903434..88907067hg19UCSC Ensembl
Innerchr7:88903934..88906567hg19UCSC Ensembl
Outerchr7:88902434..88908067hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg383634
hg193634
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614073
Supporting Variants
SamplesHG02971
Known GenesZNF804B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12882001
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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