A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613248



Internal ID7000146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:55667080..56415551hg38UCSC Ensembl
Innerchr7:55667230..56415401hg38UCSC Ensembl
Outerchr7:55666930..56415701hg38UCSC Ensembl
chr7:55734773..56483244hg19UCSC Ensembl
Innerchr7:55734923..56483094hg19UCSC Ensembl
Outerchr7:55734623..56483394hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38748472
hg19748472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12784411
SamplesNA12828
Known GenesCCT6A, CHCHD2, FKBP9L, GBAS, MRPS17, NUPR1L, PHKG1, PSPH, SEPT14, SNORA15, SUMF2, ZNF713
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613248
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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