A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672021



Internal ID9591440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27272728..27273500hg38UCSC Ensembl
chr12:27425661..27426433hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38773
hg19773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5604484, essv5867893, essv5547881, essv6038689, essv6579966, essv5959419, essv6427935, essv6532141, essv6570296, essv5423067
SamplesHG00403, NA18606, NA18616, NA18557, HG00436, HG00556, HG00531, HG00525, HG00418, NA18562
Known GenesSTK38L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672021
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer