A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997522



Internal ID10025591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16518437..16891412hg38UCSC Ensembl
Innerchr1:16844932..17217907hg19UCSC Ensembl
Innerchr1:16717519..17090494hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38372976
hg19372976
hg18372976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763736
Supporting Variants
SamplesSW_1436
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv6997522
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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