A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667669



Internal ID9933774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16506991..16659660hg38UCSC Ensembl
chr1:16833486..16986155hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38152670
hg19152670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21e199
Supporting Variantsessv5691191, essv5720540, essv6326286, essv6320662, essv5509864, essv5940431, essv5643837
SamplesHG00608, HG00512, HG00344, HG00708, HG00651, NA18535, NA18636
Known GenesCROCCP2, MIR3675, MST1P2, NBPF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667669
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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