A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6484970



Internal ID9385812
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 StatusS
Merged Variantsesv2669646
Supporting Variants
SamplesNA18579
Known GenesPAPPA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6484970
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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