A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349117



Internal ID15196099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56537675..56537694hg38UCSC Ensembl
Innerchr1:56537671..56537698hg38UCSC Ensembl
Outerchr1:56537652..56537717hg38UCSC Ensembl
chr1:57003347..57003366hg19UCSC Ensembl
Innerchr1:57003343..57003370hg19UCSC Ensembl
Outerchr1:57003324..57003389hg19UCSC Ensembl
chr1:56775935..56775954hg18UCSC Ensembl
Innerchr1:56775958..56775931hg18UCSC Ensembl
Outerchr1:56775912..56775977hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9594312
SamplesNA12043
Known GenesPPAP2B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349117
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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