A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6145131



Internal ID9122534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100601193..100605399hg38UCSC Ensembl
Outerchr7:100600622..100605969hg38UCSC Ensembl
Innerchr7:100198816..100203022hg19UCSC Ensembl
Outerchr7:100198245..100203592hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385348
hg195348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659884
Supporting Variants
SamplesNA19818
Known GenesFBXO24, PCOLCE, PCOLCE-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6145131
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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