A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv75e55



Internal ID22761025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41819688..42008459hg38UCSC Ensembl
chr13:42393824..42582595hg19UCSC Ensembl
chr13:41291824..41480595hg18UCSC Ensembl
chr13:41291824..41480595hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38188772
hg19188772
hg18188772
hg17188772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751143, esv2751144
SamplesBEC_549, BEC_699
Known GenesVWA8, VWA8-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv75e55
Frequency
Sample Size771
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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