A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv21e199



Internal ID20123323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16506846..16675106hg38UCSC Ensembl
chr1:16833341..17001601hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38168261
hg19168261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2667810, esv2669650, esv2667669, esv2666304, esv2668944
SamplesNA19712, HG00344, NA18535, HG00418, HG01082, HG01488, HG01350, HG00698, HG00651, NA19463, NA18636, HG00662, HG00640, HG00512, HG00236, HG00427, NA18599, HG00608, HG00123, HG00708, NA18574, HG00183, HG00336, NA19439
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2, NBPF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv21e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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