A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659263



Internal ID2892350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:206515..207187hg38UCSC Ensembl
chr7:206515..207187hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38673
hg19673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5880117, essv6439757, essv6297303, essv6396124, essv5637173, essv6048254, essv5605629, essv6485129
SamplesHG01515, HG01550, NA19172, NA19074, NA18544, NA19755, NA19225, NA19750
Known GenesFAM20C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659263
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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