A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6556154



Internal ID9533557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55677833..56426334hg38UCSC Ensembl
Outerchr7:55677799..56426369hg38UCSC Ensembl
Innerchr7:55745526..56494027hg19UCSC Ensembl
Outerchr7:55745492..56494062hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38748571
hg19748571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658869
Supporting Variants
SamplesHG00262
Known GenesCCT6A, CHCHD2, FKBP9L, GBAS, LOC650226, 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)essv6556154
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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