A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3611113



Internal ID11804069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56835398..56835464hg38UCSC Ensembl
chr5:56131225..56131291hg19UCSC Ensembl
chr5:56166982..56167048hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1751401
Supporting Variants
SamplesHuRef
Known GenesMAP3K1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3611113
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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