A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677084



Internal ID9596503
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5407704, essv6123368
SamplesNA19909, HG01461
Known GenesSPOCK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677084
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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