A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8908168



Internal ID14044735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127881320..127881330hg38UCSC Ensembl
Innerchr2:127881312..127881338hg38UCSC Ensembl
Outerchr2:127881302..127881348hg38UCSC Ensembl
chr2:128638894..128638904hg19UCSC Ensembl
Innerchr2:128638886..128638912hg19UCSC Ensembl
Outerchr2:128638876..128638922hg19UCSC Ensembl
chr2:128355364..128355374hg18UCSC Ensembl
Innerchr2:128355382..128355356hg18UCSC Ensembl
Outerchr2:128355346..128355392hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3373656
Supporting Variants
SamplesNA18555
Known GenesAMMECR1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8908168
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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