A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661468



Internal ID9927573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41281062..41281408hg38UCSC Ensembl
chr12:41674864..41675210hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5886691, essv6099748, essv5505472, essv6280404, essv6280954, essv6069979, essv5687871, essv6144130, essv5649562, essv5554830, essv6531044, essv5602037, essv6133583, essv5689960, essv6412430, essv5846811, essv5436646, essv6514712, essv6367228, essv6436514, essv5399815
SamplesNA19648, HG01356, HG00536, HG01365, HG00683, HG00159, NA18985, HG00178, HG01353, HG01183, NA20505, HG00701, HG00436, NA19081, HG00619, HG01390, HG01375, HG00256, HG00372, NA07000, HG00593
Known GenesPDZRN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661468
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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