A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12829704



Internal ID2831520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71390799..71405415hg38UCSC Ensembl
chr7:70855785..70870401hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3814617
hg1914617
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613628
Supporting Variants
SamplesHG02694
Known GenesWBSCR17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12829704
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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