A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10993624



Internal ID995440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44914366..44915798hg38UCSC Ensembl
Innerchr3:44914411..44915754hg38UCSC Ensembl
Outerchr3:44914322..44915843hg38UCSC Ensembl
chr3:44955858..44957290hg19UCSC Ensembl
Innerchr3:44955903..44957246hg19UCSC Ensembl
Outerchr3:44955814..44957335hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381433
hg191433
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596041
Supporting Variants
SamplesHG03539
Known GenesTGM4, ZDHHC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10993624
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer