A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7766672



Internal ID13258944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45443699..45443700hg38UCSC Ensembl
Innerchr2:45443677..45443722hg38UCSC Ensembl
Outerchr2:45443676..45443723hg38UCSC Ensembl
chr2:45670838..45670839hg19UCSC Ensembl
Innerchr2:45670816..45670861hg19UCSC Ensembl
Outerchr2:45670815..45670862hg19UCSC Ensembl
chr2:45524342..45524343hg18UCSC Ensembl
Innerchr2:45524365..45524320hg18UCSC Ensembl
Outerchr2:45524319..45524366hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382444
hg192444
hg182444
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305628
Supporting Variants
SamplesNA12814
Known GenesSRBD1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7766672
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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