A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9594312



Internal ID13342487
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 StatusS
Merged Variantsesv3349117
Supporting Variants
SamplesNA12043
Known GenesPPAP2B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9594312
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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