A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664892



Internal ID2897979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162131842..162132236hg38UCSC Ensembl
chr5:161558848..161559242hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5787947, essv5605912, essv5404523, essv5397879, essv5992596, essv6077848, essv5562387
SamplesHG01378, NA20811, HG01048, NA12144, HG01125, HG01102, NA20519
Known GenesGABRG2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664892
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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