A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669650



Internal ID9935755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16540538..16675106hg38UCSC Ensembl
chr1:16867033..17001601hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38134569
hg19134569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21e199
Supporting Variantsessv6456425, essv6355806, essv5693377, essv6413785, essv6159884, essv5989224, essv6033377, essv6296747
SamplesHG00640, HG01350, HG01488, NA18574, NA19712, NA19439, HG00662, NA19463
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2, NBPF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669650
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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