A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677371



Internal ID9596790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8954339..9488452hg38UCSC Ensembl
chr4:8956065..9490098hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38534114
hg19534034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv922e199
Supporting Variantsessv6382756, essv5910153, essv5872796, essv5944403
SamplesHG00501, HG00108, HG01190, HG00656
Known GenesDEFB131, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677371
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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