A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10542696



Internal ID544512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75136225..75149567hg38UCSC Ensembl
Innerchr2:75136232..75149560hg38UCSC Ensembl
Outerchr2:75136218..75149574hg38UCSC Ensembl
chr2:75363351..75376693hg19UCSC Ensembl
Innerchr2:75363358..75376686hg19UCSC Ensembl
Outerchr2:75363344..75376700hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3813343
hg1913343
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591293
Supporting Variants
SamplesNA12154
Known GenesTACR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10542696
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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