A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599200



Internal ID6986248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194493437..194494670hg38UCSC Ensembl
Innerchr3:194493456..194494652hg38UCSC Ensembl
Outerchr3:194493419..194494689hg38UCSC Ensembl
chr3:194214166..194215399hg19UCSC Ensembl
Innerchr3:194214185..194215381hg19UCSC Ensembl
Outerchr3:194214148..194215418hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381234
hg191234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11283907, essv11283908, essv11283909, essv11283910, essv11283906, essv11283911
SamplesHG03100, HG03452, HG02541, NA19317, NA20127, NA19096
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599200
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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