A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9612236



Internal ID14564254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151241051..151241070hg38UCSC Ensembl
Innerchr3:151241047..151241074hg38UCSC Ensembl
Outerchr3:151241028..151241093hg38UCSC Ensembl
chr3:150958839..150958858hg19UCSC Ensembl
Innerchr3:150958835..150958862hg19UCSC Ensembl
Outerchr3:150958816..150958881hg19UCSC Ensembl
chr3:152441529..152441548hg18UCSC Ensembl
Innerchr3:152441552..152441525hg18UCSC Ensembl
Outerchr3:152441506..152441571hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3395422
Supporting Variants
SamplesNA19141
Known GenesMED12L, P2RY14
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9612236
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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