A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597629



Internal ID6984768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123696008..123697753hg38UCSC Ensembl
Innerchr3:123696022..123697740hg38UCSC Ensembl
Outerchr3:123695995..123697767hg38UCSC Ensembl
chr3:123414855..123416600hg19UCSC Ensembl
Innerchr3:123414869..123416587hg19UCSC Ensembl
Outerchr3:123414842..123416614hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381746
hg191746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11125368
SamplesHG02026
Known GenesMYLK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597629
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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