A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674449



Internal ID13715363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127881332..127881360hg38UCSC Ensembl
Innerchr2:127881330..127881360hg38UCSC Ensembl
Outerchr2:127881304..127881388hg38UCSC Ensembl
chr2:128638906..128638934hg19UCSC Ensembl
Innerchr2:128638904..128638934hg19UCSC Ensembl
Outerchr2:128638878..128638962hg19UCSC Ensembl
chr2:128355376..128355404hg18UCSC Ensembl
Innerchr2:128355404..128355374hg18UCSC Ensembl
Outerchr2:128355348..128355432hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3448130
Supporting Variants
SamplesNA12892
Known GenesAMMECR1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674449
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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