A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658203



Internal ID9577622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55674409..56422917hg38UCSC Ensembl
Outerchr7:55674375..56422952hg38UCSC Ensembl
Innerchr7:55742102..56490610hg19UCSC Ensembl
Outerchr7:55742068..56490645hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38748578
hg19748578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1201e199
Supporting Variantsessv5449131
SamplesNA19785
Known GenesCCT6A, CHCHD2, FKBP9L, GBAS, MRPS17, NUPR1L, PHKG1, PSPH, SEPT14, SNORA15, SUMF2, ZNF713
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658203
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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