A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628485



Internal ID7015309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8888820..8895697hg38UCSC Ensembl
Innerchr12:8889320..8895197hg38UCSC Ensembl
Outerchr12:8887820..8896697hg38UCSC Ensembl
chr12:9041416..9048293hg19UCSC Ensembl
Innerchr12:9041916..9047793hg19UCSC Ensembl
Outerchr12:9040416..9049293hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386878
hg196878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14361761
SamplesHG02944
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628485
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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