A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669646



Internal ID9935751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:176538422..176539010hg38UCSC Ensembl
Outerchr1:176538385..176539060hg38UCSC Ensembl
Innerchr1:176507558..176508146hg19UCSC Ensembl
Outerchr1:176507521..176508196hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38676
hg19676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6484970
SamplesNA18579
Known GenesPAPPA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669646
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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