A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604923



Internal ID6991951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44344236..44344886hg38UCSC Ensembl
Innerchr5:44344317..44344827hg38UCSC Ensembl
Outerchr5:44344091..44345031hg38UCSC Ensembl
chr5:44344338..44344988hg19UCSC Ensembl
Innerchr5:44344419..44344929hg19UCSC Ensembl
Outerchr5:44344193..44345133hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38651
hg19651
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11887020, essv11887022, essv11887023, essv11887027, essv11887039, essv11887035, essv11887028, essv11887024, essv11887033, essv11887037, essv11887021, essv11887038, essv11887025, essv11887029, essv11887034, essv11887030, essv11887026, essv11887036, essv11887031, essv11887032
SamplesHG03378, HG03086, HG02541, HG02840, NA19235, NA19207, NA19159, HG03363, NA18516, NA18907, HG03123, NA19042, HG02283, HG01890, NA19256, NA19439, NA19324, HG03063, HG03410, HG03129
Known GenesFGF10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604923
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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