A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11144n54



Internal ID20144568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2620317..2712853hg38UCSC Ensembl
chr7:2659951..2752487hg19UCSC Ensembl
chr7:2626477..2719013hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3892537
hg1992537
hg1892537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv605864, nsv605867, nsv605869, nsv605865
SamplesHGDP00490, HGDP00852, HGDP01048
Known GenesAMZ1, TTYH3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11144n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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