A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5718330



Internal ID8695733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55678274..56426774hg38UCSC Ensembl
Outerchr7:55678240..56426809hg38UCSC Ensembl
Innerchr7:55745967..56494467hg19UCSC Ensembl
Outerchr7:55745933..56494502hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38748570
hg19748570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678087
Supporting Variants
SamplesHG00236
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)essv5718330
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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