A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11133197



Internal ID1135013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126435178..126440232hg38UCSC Ensembl
Innerchr3:126435229..126440181hg38UCSC Ensembl
Outerchr3:126435127..126440283hg38UCSC Ensembl
chr3:126154021..126159075hg19UCSC Ensembl
Innerchr3:126154072..126159024hg19UCSC Ensembl
Outerchr3:126153970..126159126hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg385055
hg195055
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597682
Supporting Variants
SamplesHG01852
Known GenesCCDC37, ZXDC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11133197
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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