A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612989



Internal ID6999888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43240178..43243058hg38UCSC Ensembl
Innerchr7:43240178..43243058hg38UCSC Ensembl
Outerchr7:43240064..43243218hg38UCSC Ensembl
chr7:43279777..43282657hg19UCSC Ensembl
Innerchr7:43279777..43282657hg19UCSC Ensembl
Outerchr7:43279663..43282817hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382881
hg192881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12756349
SamplesHG03190
Known GenesHECW1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612989
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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