A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6123368



Internal ID9100771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:136985435..136987747hg38UCSC Ensembl
Outerchr5:136985398..136987797hg38UCSC Ensembl
Innerchr5:136321124..136323436hg19UCSC Ensembl
Outerchr5:136321087..136323486hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg382400
hg192400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677084
Supporting Variants
SamplesNA19909
Known GenesSPOCK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6123368
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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