A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658869



Internal ID9578288
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 Flag
Merged StatusM
Merged Variantsdgv1201e199
Supporting Variantsessv6556154, essv6362795
SamplesHG00262, HG00282
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)esv2658869
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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