A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657750



Internal ID9577169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11481384..11483143hg38UCSC Ensembl
chr1:11541441..11543200hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381760
hg191760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6269148
SamplesNA20586
Known GenesPTCHD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657750
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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