A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6346n100



Internal ID22792433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48204817..48549002hg38UCSC Ensembl
chr7:48244414..48588598hg19UCSC Ensembl
chr7:48214960..48559144hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38344186
hg19344185
hg18344185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1015183, nsv1022578, nsv1023575, nsv1032221
Samples
Known GenesABCA13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6346n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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