A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671499



Internal ID9937604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51069350..51069756hg38UCSC Ensembl
chr12:51463133..51463539hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5851258, essv6379863, essv6471437, essv5489702, essv5901691, essv6490082, essv6154677, essv6378025, essv5986925, essv5800674, essv5503356, essv6297570, essv5607870, essv6155408, essv5996818, essv5541733, essv6389635, essv5860532, essv5675677, essv6175437, essv6236490, essv6036426
SamplesHG01462, NA19355, NA19197, NA19904, NA19384, NA20340, NA19371, NA19235, NA19172, NA19403, NA19327, NA18910, NA18856, NA19452, NA19625, NA19321, NA20276, NA19818, NA19376, NA19213, NA18505, NA19129
Known GenesCSRNP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671499
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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