A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3917557



Internal ID11497628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51652566..51652892hg38UCSC Ensembl
chr6:51517364..51517690hg19UCSC Ensembl
chr6:51625323..51625649hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38327
hg19327
hg18327
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1140845
Supporting Variants
SamplesHuRef
Known GenesPKHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3917557
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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