A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613069



Internal ID6653280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47708002..47898700hg38UCSC Ensembl
chr7:47747600..47938297hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38190699
hg19190698
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12761753, essv12761754
SamplesNA20289, HG04153
Known GenesC7orf69, LINC00525, PKD1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613069
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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